@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_head
{
this:
np:hasAssertion
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_assertion
;
np:hasProvenance
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_provenance
;
np:hasPublicationInfo
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_assertion
a
np:Assertion
.
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_provenance
a
np:Provenance
.
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_assertion
{
miriam-gene:127534
a
ncit:C16612
.
lld:C0022596
a
ncit:C7057
.
dgn-gda:DGN65a8c14a02af36207a7522da3d798c18
sio:SIO_000628
miriam-gene:127534
,
lld:C0022596
;
a
sio:SIO_001121
.
}
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_provenance
{
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_assertion
dcterms:description
"[Mutations in connexin 31 (GJB3) and connexin 30.3 (GJB4), implicated in previous reports of EKV, and connexin 26 (GJB2), implicated in palmoplantar keratoderma, were unlikely given the lack of shared homozygous haplotypes in the regions surrounding these genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:15668823
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP726062.RAF77gQ950wNZum3knNf3EnJwfaooD3kO9nCJSGiENN9s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:20+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}